Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

2010 ◽  
Vol 25 (12) ◽  
pp. 2592-2605 ◽  
Author(s):  
Pui Yan Jenny Chung ◽  
Greet Beyens ◽  
Philip L Riches ◽  
Liesbeth Van Wesenbeeck ◽  
Fenna de Freitas ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone ◽  
Gene Encoding

Genetics of Paget's disease of bone

2005 ◽  
Vol 109 (3) ◽  
pp. 257-263 ◽  
Author(s):  
Anna Daroszewska ◽  
Stuart H. Ralston
Keyword(s):  
Paget’S Disease ◽  
Nuclear Factor Κb ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Signalling Pathway ◽  
Common Disease ◽  
Paget's Disease Of Bone ◽  
Gene Encoding ◽  
Sequestosome 1 ◽  
Candidate Loci

PDB (Paget's disease of bone) is a common condition characterized by focal increases in bone turnover affecting one or more sites throughout the skeleton. Genetic factors are important in the pathogenesis of PDB and many families have been described where PDB is inherited in an autosomal-dominant fashion. Several candidate loci for susceptibility to PDB and related syndromes have been identified by genome-wide scans and recent evidence suggests that mutations in genes that encode components of the RANK [receptor activator of NF-κB (nuclear factor-κB)]/NF-κB signalling pathway play an important role in the pathogenesis of this group of diseases. Insertion mutations in the TNFRSF11A gene encoding RANK have been identified as the cause of familial expansile osteolysis, some cases of early onset PDB and expansile skeletal hyperphosphatasia. Inactivating mutations in the TNFRSF11B gene that encodes OPG (osteoprotegerin) have been found to cause the syndrome of juvenile PDB. Polymorphisms in OPG also appear to increase the risk of developing PDB. The most important causal gene for classical PDB is Sequestosome 1 (SQSTM1), which is a scaffold protein in the NF-κB signalling pathway, and mutations affecting the UBA (ubiquitin-associated) domain of this protein occur in between 20–50% of familial and 10–20% of sporadic PDB cases. The rare syndrome of IBMPFD (inclusion body myopathy, PDB and fronto-temporal dementia) is due to mutations in the VCP gene and these also cluster in the domain of VCP that interacts with ubiquitin, suggesting a common disease mechanism with SQSTM1-mediated PDB.

scholarly journals Genetic variation in the TNFRSF11A (RANK) gene contributes to the risk to develop sporadic Paget's disease of bone

Bone ◽  
2009 ◽  
Vol 44 ◽  
pp. S347-S348 ◽  
Author(s):  
P.Y.J. Chung⁎ ◽  
G. Beyens ◽  
P.L. Riches ◽  
L. Van Wesenbeeck ◽  
K. Jennes ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone ◽  
Rank Gene

Paget's Disease of Bone

2006 ◽  
Vol 39 (11) ◽  
pp. 20
Author(s):  
Elizabeth Mechcatie ◽  
Lora T. McGlade
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

Variants in RIN3 predispose to Paget's disease of bone

2014 ◽  
Author(s):  
Maheva Vallet ◽  
Antonia Sophocleous ◽  
Jon Warner ◽  
Stewart W Morris ◽  
James F Wilson ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone
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